PedAM

Pediatric Disease Annotations & Medicines


	insulin-like growth factor i

Disease ID	1206
Disease	insulin-like growth factor i
Definition	A well-characterized basic peptide believed to be secreted by the liver and to circulate in the blood. It has growth-regulating, insulin-like, and mitogenic activities. This growth factor has a major, but not absolute, dependence on GROWTH HORMONE. It is believed to be mainly active in adults in contrast to INSULIN-LIKE GROWTH FACTOR II, which is a major fetal growth factor.
Synonym	igf 1 igf 1 - insulin like growth factor 1 igf i igf-1 igf-i igf-i-smc insulin like growth factor 00 01 insulin like growth factor 1 insulin like growth factor i insulin like somatomedin peptide i insulin-like growth factor 1 insulin-like growth factor 1 (igf-1) insulin-like growth factor i [chemical/ingredient] insulin-like growth factor-i insulin-like somatomedin peptide i sm-c smc - somatomedin c somatomedin c somatomedin c (substance)
OMIM	OMIM:147440
UMLS	C0021665
MeSH	D007334
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0006142 \| breast cancer \| 2 C0020598 \| hypoglycemia \| 2 C0035078 \| renal failure \| 1 C0376358 \| prostate cancer \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0024299 \| lymphoma \| 1 C0334634 \| mantle cell lymphoma \| 1 C0022660 \| acute renal failure \| 1 C0878544 \| cardiomyopathy \| 1 C0021831 \| enteropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) IGF1 \| 3479 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 3479 \| IGF1 \| infer 79415 \| C17orf62 \| infer 2309 \| FOXO3 \| infer 84623 \| KIRREL3 \| infer 100271464 \| RPL23AP51 \| infer 9806 \| SPOCK2 \| infer 222052 \| TTC4P1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1206
Disease	insulin-like growth factor i
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0003002 \| Breast carcinoma \| 2 HP:0001943 \| Hypoglycemia \| 2 HP:0001638 \| Cardiomyopathy \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0002242 \| Enteropathy \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0001520 \| Birthweight > 90th percentile \| 1

Disease ID	1206
Disease	insulin-like growth factor i
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:19)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
12	102813632	rs2072592	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.267	1.098	3.13	GE1	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript
12	102813717	rs5742683	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	Aft1-primary,1.7025	Asg1-DBD-primary,1.3906	Bas1-primary,1.3786	Cha4-primary,1.3283	Gsm1-FL-primary,2.3429	NA	NA	NA	NA	NA	NA	0.000	-0.498	-3.04	R1	A	NA	NA	NA	NA	NA
12	102823478	rs5742667	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	TFP.JUND	CHMM	TFP.CEBPB	NA	NA	NA	LM113,8.0055	LM136,4.8868	LM183,1.3122	LM192,1.7389	LM193,1.7601	NA	NA	NA	NA	NA	NA	0.332	1.489	4.66	E/GM	A	NA	NA	NA
12	102823990	rs5742663	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	CHMM	MCV-1	NA	NA	NA	LM188,21.1789	Ar,2.9168	WGGAATGY,3.7487	NA	NA	NA	NA	NA	NA	0.011	0.210	0.856	E/GM	T	NA	NA	NA	NA	NA	NA
12	102831786	rs7300373	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	TFP.CEBPB	CHMM	TFP.USF1	NA	NA	NA	LM3,1.403	LM14,1.6961	LM185,3.1061	LM199,1.3556	LM212,2.4697	NA	NA	NA	NA	NA	NA	0.003	0.392	1.63	E/GM	T	NA	NA	NA
12	102856474	rs5742632	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	TFP.STAT3	NA	NA	NA	Cphx_3484,2.0592	Dobox5_3493,1.3328	Obox5_2284,1.3074	Obox5_3963,1.407	Otx2_3441,1.3047	NA	NA	NA	NA	NA	NA	0.000	-0.472	-0.862	GE0	G	NA	NA	NA	NA	NA
12	102856647	rs2195240	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM28,1.6088	LM33,3.7944	LM37,2.799	LM44,2.8641	LM82,1.2755	NA	NA	NA	NA	NA	NA	0.858	0.374	1.91	R1	G	NA	NA	NA	NA	NA
12	102856702	rs2195239	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM10,2.2354	LM39,2.2175	LM177,1.2915	LM189,2.1312	LM202,2.0698	NA	NA	NA	NA	NA	NA	1.000	3.824	5.93	R1	G	NA	NA	NA	NA	NA
12	102857263	rs5742629	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	MCV-11	NA	NA	NA	LM17,1.3319	LM26,1.425	LM28,3.1281	LM33,1.827	LM37,1.3429	NA	NA	NA	NA	NA	NA	0.000	-0.394	-3.11	R1	C	NA	NA	NA	NA	NA
12	102857909	rs5742626	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	MCV-1	NA	NA	NA	LM16,1.528	LM40,2.6115	LM54,2.6501	LM96,1.2663	RYCACNNRNNRNCAG,11.612	NA	NA	NA	NA	NA	NA	0.000	-0.769	-4.53	GE0	T	NA	NA	NA	NA	NA
12	102858816	rs7956547	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	Cutl1_3494,1.4865	Gsc_2327,1.6997	Rdr1-DBD-primary,1.8939	Six3_1732,2.0416	Yer130c-primary,1.7411	NA	NA	NA	NA	NA	NA	0.010	0.182	0.744	R1	T	NA	NA	NA	NA	NA
12	102858828	rs12423791	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	Cep3-primary,3.2991	Cutl1_3494,2.5913	Pdr1-DBD-primary,3.942	Rsc3-primary,4.808	Six3_1732,2.0953	NA	NA	NA	NA	NA	NA	0.000	-0.944	-4.32	R1	G	NA	NA	NA	NA	NA
12	102860060	rs4764698	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	MCV-3	NA	NA	NA	Barx1_2877,1.3386	Homez_1063,2.6739	LM3,1.3113	LM16,1.8835	LM38,1.7663	NA	NA	NA	NA	NA	NA	0.000	0.178	0.871	R1	C	NA	NA	NA	NA	NA
12	102862979	rs10778176	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM4,1.6374	LM43,1.4338	LM50,11.1788	LM58,3.6333	LM81,16.7737	NA	NA	NA	NA	NA	NA	0.000	-0.040	-0.503	GE1	T	NA	NA	NA	NA	NA
12	102864425	rs1019731	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM22,9.0855	LM84,1.3339	LM103,22.877	LM107,13.6553	LM207,1.9534	NA	NA	NA	NA	NA	NA	0.604	0.200	1.06	R1	C	NA	NA	NA	0.080	0.004
12	102865052	rs10860869	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	TFP.TAL1	NA	NA	NA	LM19,1.6211	LM38,3.1237	LM55,1.2994	LM69,2.1853	LM109,4.1797	NA	NA	NA	NA	NA	NA	0.999	1.130	3.37	R4	T	NA	NA	NA	NA	NA
12	102866638	rs17796225	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM6,1.8112	LM11,4.6797	LM54,1.7362	LM120,28.4785	LM159,2.0769	NA	NA	NA	NA	NA	NA	0.066	0.509	2.05	GE0	T	NA	NA	NA	NA	NA
12	102869905	rs5742617	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	LM131,8.4068	LM171,1.579	RSRFC4,5.524	Ik-2,7.976	MEF-2,1.2705	NA	NA	NA	NA	NA	NA	0.000	-0.466	-2.14	R4	C	NA	NA	NA	NA	NA
12	102870801	rs5742615	NM_001111284,IGF1	NM_000618,IGF1	NM_001111283,IGF1	NM_001111285,IGF1	ENST00000456098,ENSG00000017427	ENST00000337514,ENSG00000017427	ENST00000392904,ENSG00000017427	ENST00000424202,ENSG00000017427	ENST00000392905,ENSG00000017427	ENST00000307046,ENSG00000017427	NA	NA	NA	NA	Aft1-primary,5.9892	Hoxa9_2622,7.9247	Mig1-primary,1.3151	Mig2-primary,3.5907	Nkx6-1_2825,2.0509	NA	NA	NA	NA	NA	NA	0.000	-0.557	-3.59	R1	C	NA	NA	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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